Using gene panels in the diagnosis of neuromuscular disorders: A mini-review

The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger sequencing for molecular diagnosis was less frequent...

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Bibliographic Details
Published in:Frontiers in neurology 2022-10, Vol.13, p.997551-997551
Main Authors: Ng, Kay W. P., Chin, Hui-Lin, Chin, Amanda X. Y., Goh, Denise Li-Meng
Format: Article
Language:English
Subjects:
diagnosis
gene panels
genetic testing
Neurology
neuromuscular disorders
next-generation sequencing
precision medicine
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Summary:The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger sequencing for molecular diagnosis was less frequently utilized as its application was a time-consuming and cost-intensive process. The advent and accessibility of next-generation sequencing (NGS) has revolutionized the evaluation process of genetically heterogenous neuromuscular disorders. Current NGS diagnostic testing approaches include gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). Gene panels are often the most widely used, being more accessible due to availability and affordability. In this mini-review, we describe the benefits and risks of clinical genetic testing. We also discuss the utility, benefits, challenges, and limitations of using gene panels in the evaluation of neuromuscular disorders.
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2022.997551